T35S (p.Thr35Ser) variant of CHAMP1 (Q96JM3)
T35S (p.Thr35Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T35S (p.Thr35Ser) variant details
- p.Thr35Ser
- gnomAD 13-114323945-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.07
- ESM-1b 0.33
- AlphaMissense 0.13
- CADD 18.00
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available